Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520014
rs1057520014
0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990

dbSNP: rs121913390
rs121913390
0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990

dbSNP: rs121913393
rs121913393
0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990

dbSNP: rs1801271
rs1801271
0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990

dbSNP: rs121913512
rs121913512
KIT
0.700 GeneticVariation CLINVAR STI571 inactivation of the gastrointestinal stromal tumor c-KIT oncoprotein: biological and clinical implications. 11526490

2001

dbSNP: rs587782746
rs587782746
NBN
0.010 GeneticVariation BEFREE We screened healthy controls and pediatric patients with hematological malignancies and aplastic anemia (AA) for the presence of I171V. 15338273

2004

dbSNP: rs61754966
rs61754966
NBN
0.010 GeneticVariation BEFREE We screened healthy controls and pediatric patients with hematological malignancies and aplastic anemia (AA) for the presence of I171V. 15338273

2004

dbSNP: rs3745274
rs3745274
0.010 GeneticVariation BEFREE This study demonstrates for the first time that the presence of the CYP2B6 G516T mutation increases the rate of 4-OH-CPA formation in patients with hematological malignancies. 16183265

2006

dbSNP: rs121913506
rs121913506
KIT
0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006

dbSNP: rs121913615
rs121913615
MPL
0.700 GeneticVariation CLINVAR MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. 16834459

2007

dbSNP: rs104894226
rs104894226
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007

dbSNP: rs104894230
rs104894230
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007

dbSNP: rs112445441
rs112445441
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007

dbSNP: rs121434596
rs121434596
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007

dbSNP: rs121913237
rs121913237
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007

dbSNP: rs121913529
rs121913529
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007

dbSNP: rs727503094
rs727503094
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007

dbSNP: rs757333753
rs757333753
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007

dbSNP: rs1057519802
rs1057519802
0.700 GeneticVariation CLINVAR Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1. 18971950

2009

dbSNP: rs77375493
rs77375493
0.030 GeneticVariation BEFREE Although the Jak2-V617F mutation has generated strong awareness because of its causative role in myeloproliferative disorders, reports of Jak2 gene aberrations linked to hematologic malignancies have preceded those of V617F by nearly a decade. 19216843

2009

dbSNP: rs78245253
rs78245253
0.010 GeneticVariation BEFREE GATA-2 L359 V mutation is exclusively associated with CML progression but not other hematological malignancies and GATA-2 P250A is a novel single nucleotide polymorphism. 19304323

2009

dbSNP: rs148704956
rs148704956
0.010 GeneticVariation BEFREE This study retrospectively examined the impact of a single-nucleotide polymorphism (rs2275913, G197A) in the IL-17 gene of a total 510 recipients with hematologic malignancies and their unrelated donors on the clinical outcomes in HLA-matched myeloablative (discovery study) and nonmyeloablative (validation study) BMT through the Japan Marrow Donor Program (JMDP). 21217785

2012

dbSNP: rs748162361
rs748162361
0.010 GeneticVariation BEFREE We analyzed 77 samples from hematologic malignancies, identifying a somatic mutation in CBL (p.C381R) in one patient with T-ALL that was associated with a uniparental disomy at the CBL locus and a germline heterozygous mutation in one patient with JMML. 22591685

2012

dbSNP: rs757874631
rs757874631
CBL
0.010 GeneticVariation BEFREE We analyzed 77 samples from hematologic malignancies, identifying a somatic mutation in CBL (p.C381R) in one patient with T-ALL that was associated with a uniparental disomy at the CBL locus and a germline heterozygous mutation in one patient with JMML. 22591685

2012

dbSNP: rs11540654
rs11540654
0.020 GeneticVariation BEFREE The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk. 23029260

2013